Incidental Mutation 'R2080:Pkd2'
| ID |
229413 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pkd2
|
| Ensembl Gene |
ENSMUSG00000034462 |
| Gene Name |
polycystic kidney disease 2 |
| Synonyms |
C030034P18Rik, TRPP2, polycystin-2, PC2 |
| MMRRC Submission |
040085-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2080 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
104459450-104505819 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 104477123 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 262
(K262E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084041
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086831]
|
| AlphaFold |
O35245 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086831
AA Change: K262E
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000084041
Gene: ENSMUSG00000034462
AA Change: K262E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
58 |
79 |
N/A |
INTRINSIC |
|
low complexity region
|
93 |
115 |
N/A |
INTRINSIC |
|
low complexity region
|
119 |
138 |
N/A |
INTRINSIC |
|
transmembrane domain
|
225 |
247 |
N/A |
INTRINSIC |
|
Pfam:PKD_channel
|
265 |
685 |
1.3e-171 |
PFAM |
|
Pfam:Ion_trans
|
454 |
690 |
2.6e-25 |
PFAM |
|
coiled coil region
|
765 |
794 |
N/A |
INTRINSIC |
|
PDB:3HRN|A
|
834 |
893 |
8e-31 |
PDB |
|
low complexity region
|
900 |
915 |
N/A |
INTRINSIC |
|
low complexity region
|
949 |
963 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130931
|
| Meta Mutation Damage Score |
0.0649 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
100% (55/55) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the polycystin protein family. The encoded protein is a multi-pass membrane protein that functions as a calcium permeable cation channel, and is involved in calcium transport and calcium signaling in renal epithelial cells. This protein interacts with polycystin 1, and they may be partners in a common signaling cascade involved in tubular morphogenesis. Mutations in this gene are associated with autosomal dominant polycystic kidney disease type 2. [provided by RefSeq, Mar 2011]
PHENOTYPE: Homozygotes for targeted null mutations exhibit defects in cardiac septation, kidney and pancreatic cysts, impaired left-right axis determination, and late-gestation lethality. Heterozygotes show kidney and liver lesions and have reduced longevity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
A |
T |
5: 87,971,933 (GRCm38) |
D183V |
probably damaging |
Het |
| Ambra1 |
T |
A |
2: 91,885,719 (GRCm38) |
D858E |
probably damaging |
Het |
| Amdhd2 |
T |
C |
17: 24,156,604 (GRCm38) |
T370A |
probably benign |
Het |
| Amy1 |
A |
G |
3: 113,558,094 (GRCm38) |
W449R |
probably benign |
Het |
| Aox3 |
A |
T |
1: 58,186,280 (GRCm38) |
I1179F |
probably benign |
Het |
| Atp10a |
C |
A |
7: 58,824,327 (GRCm38) |
Q1121K |
probably damaging |
Het |
| Btaf1 |
C |
T |
19: 36,951,148 (GRCm38) |
A123V |
probably benign |
Het |
| Car6 |
T |
C |
4: 150,198,141 (GRCm38) |
K16E |
probably benign |
Het |
| Cgnl1 |
C |
T |
9: 71,656,096 (GRCm38) |
D779N |
probably benign |
Het |
| Cyp2a4 |
G |
A |
7: 26,308,537 (GRCm38) |
R123Q |
possibly damaging |
Het |
| D430041D05Rik |
C |
T |
2: 104,156,816 (GRCm38) |
R1895Q |
probably damaging |
Het |
| D5Ertd579e |
T |
A |
5: 36,616,206 (GRCm38) |
T282S |
probably benign |
Het |
| Dsel |
T |
C |
1: 111,859,962 (GRCm38) |
T948A |
probably benign |
Het |
| Ednrb |
A |
T |
14: 103,843,100 (GRCm38) |
I126N |
probably damaging |
Het |
| Egln1 |
A |
G |
8: 124,948,306 (GRCm38) |
M250T |
probably benign |
Het |
| Epb41l3 |
A |
T |
17: 69,253,468 (GRCm38) |
I337L |
possibly damaging |
Het |
| Epg5 |
T |
C |
18: 77,948,745 (GRCm38) |
I219T |
probably benign |
Het |
| Gm13030 |
T |
C |
4: 138,873,419 (GRCm38) |
|
probably benign |
Het |
| Gm1527 |
T |
A |
3: 28,926,661 (GRCm38) |
C637S |
probably benign |
Het |
| Hist1h1a |
A |
G |
13: 23,763,949 (GRCm38) |
N78S |
possibly damaging |
Het |
| Insrr |
T |
C |
3: 87,814,291 (GRCm38) |
I1168T |
possibly damaging |
Het |
| Ireb2 |
T |
C |
9: 54,896,552 (GRCm38) |
V509A |
possibly damaging |
Het |
| Kmt2c |
T |
C |
5: 25,354,717 (GRCm38) |
D981G |
probably damaging |
Het |
| Ktn1 |
A |
G |
14: 47,725,960 (GRCm38) |
E1164G |
probably damaging |
Het |
| L3hypdh |
A |
T |
12: 72,079,527 (GRCm38) |
V213E |
probably damaging |
Het |
| Masp1 |
T |
G |
16: 23,491,959 (GRCm38) |
D241A |
probably damaging |
Het |
| Mfsd13b |
A |
G |
7: 120,991,824 (GRCm38) |
I1V |
probably null |
Het |
| Muc5b |
T |
C |
7: 141,869,754 (GRCm38) |
V4531A |
probably benign |
Het |
| Myh2 |
A |
T |
11: 67,174,941 (GRCm38) |
|
probably null |
Het |
| Naip5 |
A |
G |
13: 100,221,533 (GRCm38) |
L1065P |
probably damaging |
Het |
| Necab1 |
T |
C |
4: 15,140,219 (GRCm38) |
|
probably benign |
Het |
| Nemf |
A |
G |
12: 69,353,786 (GRCm38) |
|
probably benign |
Het |
| Nfil3 |
A |
T |
13: 52,968,033 (GRCm38) |
D278E |
possibly damaging |
Het |
| Nup98 |
T |
C |
7: 102,180,424 (GRCm38) |
N393S |
probably damaging |
Het |
| Ogdh |
T |
A |
11: 6,349,393 (GRCm38) |
M753K |
probably benign |
Het |
| Olfr11 |
A |
T |
13: 21,639,436 (GRCm38) |
V29E |
probably damaging |
Het |
| Olfr1297 |
C |
T |
2: 111,621,739 (GRCm38) |
V112M |
probably benign |
Het |
| Olfr273 |
T |
C |
4: 52,855,568 (GRCm38) |
Y315C |
probably benign |
Het |
| Olfr561 |
T |
C |
7: 102,775,243 (GRCm38) |
F240L |
probably benign |
Het |
| Olfr901 |
T |
A |
9: 38,431,082 (GRCm38) |
S267T |
probably benign |
Het |
| Plce1 |
C |
T |
19: 38,727,013 (GRCm38) |
|
probably benign |
Het |
| Ppm1f |
T |
A |
16: 16,923,880 (GRCm38) |
M406K |
possibly damaging |
Het |
| Ptgs1 |
C |
T |
2: 36,242,847 (GRCm38) |
Q286* |
probably null |
Het |
| Scube2 |
T |
C |
7: 109,808,505 (GRCm38) |
T743A |
possibly damaging |
Het |
| Tipin |
T |
A |
9: 64,290,376 (GRCm38) |
L69* |
probably null |
Het |
| Tlk1 |
T |
A |
2: 70,738,445 (GRCm38) |
K404N |
probably damaging |
Het |
| Tmem59 |
C |
A |
4: 107,178,774 (GRCm38) |
L16I |
probably damaging |
Het |
| Utrn |
T |
C |
10: 12,737,082 (GRCm38) |
E426G |
probably benign |
Het |
| Xdh |
A |
T |
17: 73,909,325 (GRCm38) |
S709T |
probably damaging |
Het |
| Yjefn3 |
T |
C |
8: 69,889,487 (GRCm38) |
N28D |
probably damaging |
Het |
| Zfp598 |
A |
C |
17: 24,679,667 (GRCm38) |
D480A |
probably damaging |
Het |
|
| Other mutations in Pkd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00898:Pkd2
|
APN |
5 |
104,483,135 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01527:Pkd2
|
APN |
5 |
104,498,884 (GRCm38) |
splice site |
probably benign |
|
|
IGL01805:Pkd2
|
APN |
5 |
104,483,093 (GRCm38) |
missense |
probably benign |
0.41 |
|
IGL02146:Pkd2
|
APN |
5 |
104,489,291 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02326:Pkd2
|
APN |
5 |
104,477,075 (GRCm38) |
missense |
probably benign |
0.38 |
|
IGL02481:Pkd2
|
APN |
5 |
104,486,770 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02952:Pkd2
|
APN |
5 |
104,480,160 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
IGL03026:Pkd2
|
APN |
5 |
104,494,887 (GRCm38) |
splice site |
probably benign |
|
|
IGL03409:Pkd2
|
APN |
5 |
104,489,349 (GRCm38) |
nonsense |
probably null |
|
|
Nephro
|
UTSW |
5 |
104,486,806 (GRCm38) |
missense |
probably damaging |
1.00 |
|
reggae
|
UTSW |
5 |
104,477,179 (GRCm38) |
splice site |
probably null |
|
|
samba
|
UTSW |
5 |
104,477,123 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02988:Pkd2
|
UTSW |
5 |
104,503,605 (GRCm38) |
nonsense |
probably null |
|
|
PIT1430001:Pkd2
|
UTSW |
5 |
104,459,788 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0020:Pkd2
|
UTSW |
5 |
104,503,516 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0020:Pkd2
|
UTSW |
5 |
104,503,516 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0045:Pkd2
|
UTSW |
5 |
104,455,805 (GRCm38) |
unclassified |
probably benign |
|
|
R0070:Pkd2
|
UTSW |
5 |
104,466,990 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0070:Pkd2
|
UTSW |
5 |
104,466,990 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0315:Pkd2
|
UTSW |
5 |
104,459,850 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R0316:Pkd2
|
UTSW |
5 |
104,477,166 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0570:Pkd2
|
UTSW |
5 |
104,455,605 (GRCm38) |
unclassified |
probably benign |
|
|
R1277:Pkd2
|
UTSW |
5 |
104,502,359 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1883:Pkd2
|
UTSW |
5 |
104,483,228 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1907:Pkd2
|
UTSW |
5 |
104,486,806 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1937:Pkd2
|
UTSW |
5 |
104,478,924 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2023:Pkd2
|
UTSW |
5 |
104,466,878 (GRCm38) |
splice site |
probably null |
|
|
R2081:Pkd2
|
UTSW |
5 |
104,460,211 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2098:Pkd2
|
UTSW |
5 |
104,478,902 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2117:Pkd2
|
UTSW |
5 |
104,483,176 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2146:Pkd2
|
UTSW |
5 |
104,455,590 (GRCm38) |
unclassified |
probably benign |
|
|
R2163:Pkd2
|
UTSW |
5 |
104,455,677 (GRCm38) |
unclassified |
probably benign |
|
|
R3401:Pkd2
|
UTSW |
5 |
104,480,327 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R3732:Pkd2
|
UTSW |
5 |
104,489,419 (GRCm38) |
splice site |
probably null |
|
|
R3733:Pkd2
|
UTSW |
5 |
104,489,419 (GRCm38) |
splice site |
probably null |
|
|
R4409:Pkd2
|
UTSW |
5 |
104,466,884 (GRCm38) |
splice site |
silent |
|
|
R4582:Pkd2
|
UTSW |
5 |
104,502,344 (GRCm38) |
nonsense |
probably null |
|
|
R5189:Pkd2
|
UTSW |
5 |
104,459,919 (GRCm38) |
missense |
probably benign |
0.22 |
|
R5191:Pkd2
|
UTSW |
5 |
104,486,681 (GRCm38) |
missense |
probably benign |
0.05 |
|
R5195:Pkd2
|
UTSW |
5 |
104,486,681 (GRCm38) |
missense |
probably benign |
0.05 |
|
R5198:Pkd2
|
UTSW |
5 |
104,483,092 (GRCm38) |
missense |
probably benign |
0.06 |
|
R5326:Pkd2
|
UTSW |
5 |
104,486,649 (GRCm38) |
splice site |
silent |
|
|
R5406:Pkd2
|
UTSW |
5 |
104,480,332 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5542:Pkd2
|
UTSW |
5 |
104,486,649 (GRCm38) |
splice site |
silent |
|
|
R5543:Pkd2
|
UTSW |
5 |
104,489,333 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5633:Pkd2
|
UTSW |
5 |
104,498,506 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5887:Pkd2
|
UTSW |
5 |
104,498,539 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5906:Pkd2
|
UTSW |
5 |
104,477,179 (GRCm38) |
splice site |
probably null |
|
|
R5924:Pkd2
|
UTSW |
5 |
104,498,558 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6361:Pkd2
|
UTSW |
5 |
104,486,680 (GRCm38) |
nonsense |
probably null |
|
|
R6455:Pkd2
|
UTSW |
5 |
104,459,924 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6495:Pkd2
|
UTSW |
5 |
104,489,293 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6735:Pkd2
|
UTSW |
5 |
104,480,329 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6837:Pkd2
|
UTSW |
5 |
104,477,043 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7192:Pkd2
|
UTSW |
5 |
104,486,657 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7477:Pkd2
|
UTSW |
5 |
104,483,242 (GRCm38) |
missense |
probably benign |
0.19 |
|
R7560:Pkd2
|
UTSW |
5 |
104,480,353 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7867:Pkd2
|
UTSW |
5 |
104,483,120 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7894:Pkd2
|
UTSW |
5 |
104,480,237 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8251:Pkd2
|
UTSW |
5 |
104,498,487 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8360:Pkd2
|
UTSW |
5 |
104,459,787 (GRCm38) |
nonsense |
probably null |
|
|
R8368:Pkd2
|
UTSW |
5 |
104,459,787 (GRCm38) |
nonsense |
probably null |
|
|
R8526:Pkd2
|
UTSW |
5 |
104,489,236 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8751:Pkd2
|
UTSW |
5 |
104,489,285 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8956:Pkd2
|
UTSW |
5 |
104,483,224 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9101:Pkd2
|
UTSW |
5 |
104,480,364 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9271:Pkd2
|
UTSW |
5 |
104,479,093 (GRCm38) |
splice site |
probably null |
|
|
R9452:Pkd2
|
UTSW |
5 |
104,466,975 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9459:Pkd2
|
UTSW |
5 |
104,466,934 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9541:Pkd2
|
UTSW |
5 |
104,460,061 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9671:Pkd2
|
UTSW |
5 |
104,489,390 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9682:Pkd2
|
UTSW |
5 |
104,478,924 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9737:Pkd2
|
UTSW |
5 |
104,503,483 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
Z1088:Pkd2
|
UTSW |
5 |
104,498,861 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Pkd2
|
UTSW |
5 |
104,460,049 (GRCm38) |
missense |
probably benign |
0.43 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTACAATGTCTGCCTACCAG -3'
(R):5'- AAGCACTTTCAGCGTTCTCC -3'
Sequencing Primer
(F):5'- TGCCTACCAGGAAGGGTC -3'
(R):5'- CAGCGTTCTCCATGAATACTGAAGG -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation